Abstract
Mulvihill-Smith syndrome (MSS) is characterized by premature aging, multiple pigmented nevi, decreased facial subcutaneous fat, microcephaly, short stature, mental retardation and recurrent infections, however the adult phenotype of MSS has yet to be delineated. We report a 28-year-old woman with Mulvihill-Smith syndrome, who had a solid pseudopapillary cystic tumor of her pancreas at age 17 years. Her distinctive sleep pattern includes severe insomnia with disappearance of sleep spindles and K-complexes, persisting muscle tone, and loss of slow wave sleep. The clinical and neurophysiological studies are compatible with agrypnia excitata, a sleep disorder attributable to a dysfunction of the thalamo-limbic system. Brain magnetic resonance imaging and single photon emission computed tomography revealed structural and functional deficits in the dorsomedial region of the thalamus and indicated that an alteration in the thalamolimbic system may underlie the sleep disturbances in MSS. Furthermore, the rapid and severe decline in acquired cognitive function showed the distinct cognitive impairments resembling dementia, including intellectual deficits, memory disorder and executive dysfunction. We posit that an early onset tumor, sleep disorder and cognitive decline are adult manifestations of Mulvihill-Smith syndrome.
| Original language | English |
|---|---|
| Pages (from-to) | 496-500 |
| Number of pages | 5 |
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 149 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - 2009 Mar |
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Keywords
- Agrypnia excitata
- Dementia
- Mulvihill-Smith syndrome
- Sleep disorder
- Solid pseudopapillary cystic tumor
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
Case report : Adult phenotype of Mulvihill-Smith syndrome. / Yagihashi, Tatsuhiko; Kato, Motoichiro; Izumi, Kosuke; Kosaki, Rika; Yago, Kaori; Tsubota, Kazuo; Sato, Yuji; Okubo, Minoru; Watanabe, Goro; Takahashi, Takao; Kosaki, Kenjiro.
In: American Journal of Medical Genetics, Part A, Vol. 149, No. 3, 03.2009, p. 496-500.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Case report
T2 - Adult phenotype of Mulvihill-Smith syndrome
AU - Yagihashi, Tatsuhiko
AU - Kato, Motoichiro
AU - Izumi, Kosuke
AU - Kosaki, Rika
AU - Yago, Kaori
AU - Tsubota, Kazuo
AU - Sato, Yuji
AU - Okubo, Minoru
AU - Watanabe, Goro
AU - Takahashi, Takao
AU - Kosaki, Kenjiro
PY - 2009/3
Y1 - 2009/3
N2 - Mulvihill-Smith syndrome (MSS) is characterized by premature aging, multiple pigmented nevi, decreased facial subcutaneous fat, microcephaly, short stature, mental retardation and recurrent infections, however the adult phenotype of MSS has yet to be delineated. We report a 28-year-old woman with Mulvihill-Smith syndrome, who had a solid pseudopapillary cystic tumor of her pancreas at age 17 years. Her distinctive sleep pattern includes severe insomnia with disappearance of sleep spindles and K-complexes, persisting muscle tone, and loss of slow wave sleep. The clinical and neurophysiological studies are compatible with agrypnia excitata, a sleep disorder attributable to a dysfunction of the thalamo-limbic system. Brain magnetic resonance imaging and single photon emission computed tomography revealed structural and functional deficits in the dorsomedial region of the thalamus and indicated that an alteration in the thalamolimbic system may underlie the sleep disturbances in MSS. Furthermore, the rapid and severe decline in acquired cognitive function showed the distinct cognitive impairments resembling dementia, including intellectual deficits, memory disorder and executive dysfunction. We posit that an early onset tumor, sleep disorder and cognitive decline are adult manifestations of Mulvihill-Smith syndrome.
AB - Mulvihill-Smith syndrome (MSS) is characterized by premature aging, multiple pigmented nevi, decreased facial subcutaneous fat, microcephaly, short stature, mental retardation and recurrent infections, however the adult phenotype of MSS has yet to be delineated. We report a 28-year-old woman with Mulvihill-Smith syndrome, who had a solid pseudopapillary cystic tumor of her pancreas at age 17 years. Her distinctive sleep pattern includes severe insomnia with disappearance of sleep spindles and K-complexes, persisting muscle tone, and loss of slow wave sleep. The clinical and neurophysiological studies are compatible with agrypnia excitata, a sleep disorder attributable to a dysfunction of the thalamo-limbic system. Brain magnetic resonance imaging and single photon emission computed tomography revealed structural and functional deficits in the dorsomedial region of the thalamus and indicated that an alteration in the thalamolimbic system may underlie the sleep disturbances in MSS. Furthermore, the rapid and severe decline in acquired cognitive function showed the distinct cognitive impairments resembling dementia, including intellectual deficits, memory disorder and executive dysfunction. We posit that an early onset tumor, sleep disorder and cognitive decline are adult manifestations of Mulvihill-Smith syndrome.
KW - Agrypnia excitata
KW - Dementia
KW - Mulvihill-Smith syndrome
KW - Sleep disorder
KW - Solid pseudopapillary cystic tumor
UR - http://www.scopus.com/inward/record.url?scp=61749086291&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=61749086291&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.32551
DO - 10.1002/ajmg.a.32551
M3 - Article
C2 - 19213035
AN - SCOPUS:61749086291
VL - 149
SP - 496
EP - 500
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
SN - 1552-4868
IS - 3
ER -